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Fibular/Tibial Hemimelia
Roya Sohaey, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Clinical Issues

          • Diagnostic Checklist

            TERMINOLOGY

            • Definitions

              • Hemimelia: Congenital deficiency of long bones
              • Fibular hemimelia (FH): Short or absent fibula
              • Tibial hemimelia (TH): Short or absent tibia

            IMAGING

            • General Features

              • Ultrasonographic Findings

                • Imaging Recommendations

                  DIFFERENTIAL DIAGNOSIS

                    PATHOLOGY

                    • General Features

                      • Staging, Grading, & Classification

                        CLINICAL ISSUES

                        • Presentation

                          • Demographics

                            • Natural History & Prognosis

                              • Treatment

                                DIAGNOSTIC CHECKLIST

                                • Consider

                                  • Image Interpretation Pearls

                                    Selected References

                                    1. Elmherig A et al: Amputation versus limb reconstruction for fibula hemimelia: a meta-analysis. J Pediatr Orthop. 40(8):425-30, 2020
                                    2. Kumar Sahoo P et al: Clinical spectrum of congenital tibial hemimelia in 35 limbs of 24 patients: a single center observational study from India. Eur J Med Genet. 62(7):103666, 2019
                                    3. Kaplan-List K et al: Systematic radiographic evaluation of tibial hemimelia with orthopedic implications. Pediatr Radiol. 47(4):473-83, 2017
                                    4. Bedoya MA et al: Common patterns of congenital lower extremity shortening: diagnosis, classification, and follow-up. Radiographics. 35(4):1191-207, 2015
                                    5. Bergère A et al: Imaging features of lower limb malformations above the foot. Diagn Interv Imaging. 96(9):901-14, 2015
                                    6. Clinton R et al: Congenital tibial deficiency: a 37-year experience at 1 institution. J Pediatr Orthop. 35(4):385-90, 2015
                                    7. Radler C et al: Prenatal diagnosis of congenital femoral deficiency and fibular hemimelia. Prenat Diagn. 34(10):940-5, 2014
                                    8. Sharma V et al: Bilateral congenital deficiency of tibia: a case report. J Pediatr Rehabil Med. 7(4):373-7, 2014
                                    9. Alaseirlis DA et al: Residual malformations and leg length discrepancy after treatment of fibular hemimelia. J Orthop Surg Res. 6:51, 2011
                                    10. Pauleta J et al: Prenatal diagnosis of a congenital postaxial longitudinal limb defect: a case report. Obstet Gynecol Int. 2010:825639, 2010
                                    11. Suganthy J et al: Bilateral tibial hemimelia I. Clin Anat. 20(4):460-4, 2007
                                    12. Monteagudo A et al: Fetal fibular hemimelia: case report and review of the literature. J Ultrasound Med. 25(4):533-7, 2006
                                    Related Anatomy
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                                    Related Differential Diagnoses
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                                    References
                                    Tables

                                    Tables

                                    KEY FACTS

                                    • Terminology

                                      • Imaging

                                        • Top Differential Diagnoses

                                          • Clinical Issues

                                            • Diagnostic Checklist

                                              TERMINOLOGY

                                              • Definitions

                                                • Hemimelia: Congenital deficiency of long bones
                                                • Fibular hemimelia (FH): Short or absent fibula
                                                • Tibial hemimelia (TH): Short or absent tibia

                                              IMAGING

                                              • General Features

                                                • Ultrasonographic Findings

                                                  • Imaging Recommendations

                                                    DIFFERENTIAL DIAGNOSIS

                                                      PATHOLOGY

                                                      • General Features

                                                        • Staging, Grading, & Classification

                                                          CLINICAL ISSUES

                                                          • Presentation

                                                            • Demographics

                                                              • Natural History & Prognosis

                                                                • Treatment

                                                                  DIAGNOSTIC CHECKLIST

                                                                  • Consider

                                                                    • Image Interpretation Pearls

                                                                      Selected References

                                                                      1. Elmherig A et al: Amputation versus limb reconstruction for fibula hemimelia: a meta-analysis. J Pediatr Orthop. 40(8):425-30, 2020
                                                                      2. Kumar Sahoo P et al: Clinical spectrum of congenital tibial hemimelia in 35 limbs of 24 patients: a single center observational study from India. Eur J Med Genet. 62(7):103666, 2019
                                                                      3. Kaplan-List K et al: Systematic radiographic evaluation of tibial hemimelia with orthopedic implications. Pediatr Radiol. 47(4):473-83, 2017
                                                                      4. Bedoya MA et al: Common patterns of congenital lower extremity shortening: diagnosis, classification, and follow-up. Radiographics. 35(4):1191-207, 2015
                                                                      5. Bergère A et al: Imaging features of lower limb malformations above the foot. Diagn Interv Imaging. 96(9):901-14, 2015
                                                                      6. Clinton R et al: Congenital tibial deficiency: a 37-year experience at 1 institution. J Pediatr Orthop. 35(4):385-90, 2015
                                                                      7. Radler C et al: Prenatal diagnosis of congenital femoral deficiency and fibular hemimelia. Prenat Diagn. 34(10):940-5, 2014
                                                                      8. Sharma V et al: Bilateral congenital deficiency of tibia: a case report. J Pediatr Rehabil Med. 7(4):373-7, 2014
                                                                      9. Alaseirlis DA et al: Residual malformations and leg length discrepancy after treatment of fibular hemimelia. J Orthop Surg Res. 6:51, 2011
                                                                      10. Pauleta J et al: Prenatal diagnosis of a congenital postaxial longitudinal limb defect: a case report. Obstet Gynecol Int. 2010:825639, 2010
                                                                      11. Suganthy J et al: Bilateral tibial hemimelia I. Clin Anat. 20(4):460-4, 2007
                                                                      12. Monteagudo A et al: Fetal fibular hemimelia: case report and review of the literature. J Ultrasound Med. 25(4):533-7, 2006